Varaico: Literature-Extracted Genetic Variants

SON

320 papers

RefSeq Summary

This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also re...

Pfam Domains

G-patchaa 333–377UCSCG-patch domain

DND1_DSRMaa 398–451UCSCdouble strand RNA binding domain from DEAD END PROTEIN 1

RSRPaa 1906–2198UCSCArginine/Serine-Rich protein 1

Gene Aliases

HGNC Name

SON DNA and RNA binding protein

HGNC Previous Symbol

C21orf50

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_138927.4

p.S310_E311insC

c.928_932ins3

Surrounding Variants

1 paper

NM_138927.4

p.S309_S310insCT

c.925_929ins6

1 paper

NM_138927.4

p.S309_S310insCCT

c.925_929ins9

1 paper

NM_138927.4

p.S309_S310ins4

c.925_929ins12

1 paper

NM_138927.4

p.V308I

c.922G>A

1 paper

NM_138927.4

p.V296fs

c.886_887fs

5 papers

NM_138927.4

p.M326_P329del4

c.976_986del12

1 paper

NM_138927.4

p.P295insFs

c.884dupC

2 papers

NM_138927.4

p.F328I

c.982T>A

1 paper

NM_138927.4

p.Q342E

c.1024C>G

2 papers

NM_138927.4

p.P343S

c.1027C>T

4 papers

NM_138927.4

p.S348_A351del4

c.1042_1052del12

1 paper

NM_138927.4

p.P347L

c.1040C>T